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Financiado por um membro do IRDiRC =

Projetos de investigação

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCGenetic suppression of loss of tpp1
Institution: Information not provided - US

ALEMANHA

Hamburg
HAMBURG

Financiado por um membro do IRDiRCNCL2TREAT: Development of clinical outcome measures in neuronal ceroid lipofuscinoses - new tools for evaluation of experimental therapies
UKE - Universitätsklinikum Hamburg-Eppendorf
Arbeitsgruppe Degenerative Gehirnkrankheiten

ALEMANHA

Hamburg
HAMBURG

Financiado por um membro do IRDiRCNCL2TREAT: Network for neuronal ceroid lipofuscinoses (coordination)
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin

ALEMANHA

Hessen
RÜSSELSHEIM AM MAIN

Financiado por um membro do IRDiRCNCL2TREAT: Clinical diagnostics of neuronal lysosomal storage diseases and quantification of lysosomal enzymes by mass spectrometry
Steinbeis Center for Biopolymer Analysis and Biomedical Mass Spectrometry
Steinbeis-Transferzentrum Biopolymeranalytik und Biomedizinische Massenspektrometrie

ALEMANHA

Schleswig-Holstein
KIEL

Financiado por um membro do IRDiRCNCL2TREAT: Towards a therapeutic correction of autophagic flux in an NCL model by preclinical enzyme replacement therapy using recombinant cathepsin-D
Institut für Biochemie der Universität Kiel
Unit of Molecular Cell Biology and Transgenic Research

AUSTRIA

NIEDERÖSTERREICH
KLOSTERNEUBURG

The Role of Microglia in Neuronal Ceroid Lipofuscinosis
IST Austria
Institute of Science and Technology Austria

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCHeriditary neurodegenerative lysosomal storage disorders
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCHeriditary neurodegenerative storage disorders
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCNeurodegenerative lysosomal storage disorders
Institution: Information not provided - US

FINLANDIA

Finland
HELSINKI

Molecular genetics of progressive myoclonus epilepsies
Folkhälsan
Folkhälsan Research Center

FRANCA

AUVERGNE-RHONE-ALPES
LYON

characterisation of CLN7, a new lysosomal protein involved in neuronal ceroid lipofuscinosis
Institut de Biologie et Chimie des Protéines
Bases Moléculaires et Structurales des Systèmes Infectieux

FRANCA

ILE-DE-FRANCE
PARIS

Characterization of the molecular and pathophysiological mechanisms involved in ceroid-lipofuscinoses
Faculté de médecine Paris-Descartes, Site Necker
Département "Biologie cellulaire" - Equipe "Contrôle de la croissance cellulaire par les nutriments"

FRANCA

NOUVELLE AQUITAINE
BORDEAUX

Financiado por um membro do IRDiRCPhysiopathological characterization of a rat model of Kufor-Rakeb syndrome
Institut des Maladies Neurodégénératives - UMR5293
Physiopathologie du syndrome de Parkinson

REINO UNIDO

Greater London
LONDON

Financiado por um membro do IRDiRCPathological mechanisms underlying Progressive Myoclonus Epilepsy
The National Hospital For Neurology and Neurosurgery
UCL Institute of Neurology

ALEMANHA

Niedersachsen
GÖTTINGEN

PORTUGAL

NORTE
PORTO

Desenvolvimento de terapias de splicing para doentes afectados por doenças de sobrecarga lisossomal
Instituto Nacional de Saúde Dr. Ricardo Jorge - Porto
Unidade de Investigação & Desenvolvimento; Departamento de Genética

PORTUGAL

NORTE
PORTO

Inter-relações entre os mecanismos patogénicos das Doenças de Sobrecarga Lisosomal e a apresentação de antigénios lipídicos
Instituto de Biologia Molecular e Celular
Unidade de Biologia do Lisossoma e do Peroxissoma

REINO UNIDO

Cambridgeshire
CAMBRIDGE

Financiado por um membro do IRDiRCActive BRIDGE Studies - Specialist Pathology: Evaluating Exomes in Diagnostics (SPEED)
Wellcome Trust/MRC Building
Cambridge Institute for Medical Research

REINO UNIDO

Greater Manchester
ADDRESS: NOT PROVIDED - UK

CANADA

Ontario
OTTAWA

Financiado por um membro do IRDiRCEmerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
Children's Hospital of Eastern Ontario
Newborn Screening Ontario

CANADA

Ontario
OTTAWA, ONTARIO

Financiado por um membro do IRDiRCEmerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
University of Ottawa
Department of Epidemiology and Community Medicine

ESPANHA

Galicia
SANTIAGO DE COMPOSTELA

Testing the effectiveness the of Nanostring nCounter platform detecting defects of gene expression in patients with undiagnosed rare diseases
Complejo Hospitalario Universitario de Santiago
Unidad de Diagnóstico y Tratamiento de Enfermedades Metabólicas

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCBasic and clinical studies in immune function and metabolism
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

FRANCA

HAUTS-DE-FRANCE
LILLE

ID2STOP Orphan : InDividualized Drug Selection Technology for Orphan Patients
Faculté des Sciences Pharmaceutiques et Biologiques de Lille
APTEEUS: le patient au coeur de la découverte de son traitement

ITALIA

LIGURIA
GENOVA

New technologies and new strategies for neonatal screening
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Laboratorio per lo Studio degli Errori Congeniti del Metabolismo

SUECIA

Stockholms läns landsting
STOCKHOLM

Inborn errors of endocrinology and metabolism
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery

SUICA

Suisse Romande
LAUSANNE

Clinical Characteristics of Adult Patients With Inborn Errors of Metabolism in French-speaking Switzerland
Centre Hospitalier Universitaire Vaudois CHUV - Hôpital Beaumont -
CMM - Centre des Maladies Moléculaires

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCSTaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

FRANCA

PAYS DE LA LOIRE
NANTES

Financiado por um membro do IRDiRCFROGH : FRench Regional Origins in Genetics for Health - FR
Institut de Recherche en Santé - Université de Nantes
L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291

ITALIA

CAMPANIA
NAPOLI

Financiado por um membro do IRDiRCTelethon Undiagnosed Disease Program - Revised Proposal
TIGEM - Telethon Institute of Genetics and Medicine
Genomic Medicine - Telethon Institute of Genetics and Medicine

JAPAO

JAPAN
TOKYO

Financiado por um membro do IRDiRCFormation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute

PORTUGAL

SUL
LISBOA

Neuroimagem dinâmica não-invasiva em epilepsia
Instituto Superior Técnico
LaSEEB-Evolutionary Systems and Biomedical Engineering Lab

Projetos de investigação multicêntricos